Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Malignant melanoma, metastatic
CUI: C0860594
Disease: Malignant melanoma, metastatic
0.010 GeneticVariation BEFREE Surprisingly, 2 cases of metastatic malignant melanoma (2%) showed strong and diffuse c-kit expression and contained a c-kit-activating mutation, L576P, as detected by high-resolution amplicon melting analysis and confirmed by direct DNA sequencing. 15948115 2005